A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

Developmental hypoplasia of the dental enamel.

Secondary retention is the cessation of eruption of a tooth after emergence that does not result from a physical barrier in the path of eruption or an abnormal position of the tooth. Permanent molars are less frequently affected than deciduous molars. The major characteristic of a secondarily retained molar is infraocclusion, which may result in malocclusion because of tilting of the neighboring teeth and overeruption of antagonists. The disorder can also result in loss of the retained molar and neighboring teeth due to caries and periodontal disease and in deformation of the facial skeleton (Raghoebar et al., 1992). See also 125350 and 273050 for phenotypes with shared features of secondary retention of permanent molars.

Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.

Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots.

Dentin dysplasia type II (DTDP2) is a defect of dentin formation in which the clinical appearance of the secondary teeth is normal, but the primary teeth may appear opalescent, similar to teeth affected by dentinogenesis imperfecta. The roots of the teeth are of normal shape and morphologic character. The pulp chambers and root canals of the anterior teeth and the premolars are shaped like thistle tubes because of the radicular extension of the pulp chamber. Most teeth show accumulations of pulp stones in these unusually shaped pulp chambers (summary by Kalk et al., 1998). Also see dentin dysplasia type I (DTDP1; 125400).

Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).

Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).

Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.

Agenesis of premolar tooth.

Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of one or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014). Genetic Heterogeneity of Ocular Coloboma A recessive form of ocular coloboma (216820) is caused by mutation in the SALL2 gene (602219) on chromosome 14q11.